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RecruitingNCT03291223Updated Sep 15, 2026

Gaucher Disease Outcome Survey (GOS)

An observational study in Gaucher Disease, sponsored by Shire. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-09-15.

Sponsored by Shire · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
1,257
Sex
All
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Study summary

The Gaucher Outcomes Survey (GOS) is an ongoing observational, international, multi-center, long-term Registry of Patients with Gaucher Disease irrespective of their treatment status or type of treatment received. No experimental intervention is involved. Patients undergo clinical assessments and receive care as determined by the patients' treating physician.

The objectives of the registry include to evaluate the safety and long-term effectiveness of velaglucerase alfa, to characterize patients receiving velaglucerase alfa or other Gaucher Disease-specific treatments, to gain a better understanding of the natural history of GD and to serve as a database for evidence-based management of Gaucher Disease over time in real-life clinical practice.

Read the detailed description

20 MAY 2020: The temporary enrollment stop of new patients into this study due to the COVID-10 pandemic has been lifted in one or more countries/sites, and the study is now again enrolling new patients. However, some countries/sites may still have paused the enrollment of new patients due to the pandemic.

24 APRIL 2020: Enrollment of new patients into this study has been paused due to the COVID-19 situation. The duration of this pause is dependent on the leveling and control of the COVID-19 pandemic.

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Conditions studied

  • Gaucher Disease

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

GOS is a disease specific registry irrespective of treatment or treatment status, open to all patients of any age or sex with Gaucher disease of any type. Patients included may be those who are untreated, naive to therapy, individuals who are currently or have been previously treated with velaglucerase alfa (VPRIV), or individuals who have been receiving or are currently exposed to other treatments for Gaucher disease. There is no predefined sample size.

Inclusion criteria

  • Patients of any age or gender with confirmed diagnosis (biochemical and/or genetic) of Gaucher disease
  • Signed and dated written informed consent from the patient or, for patients aged \<18 years (\<16 years in the United Kingdom [UK]), their parent and/or legally authorized representatives (LAR), and assent of the minor where applicable. Legally authorized representatives are also applicable for cognitively impaired patients.

Exclusion criteria

Exclusion Criteria:

- Patients currently enrolled in ongoing blinded clinical trials (drugs or devices; includes all blinded trials)

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Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
1,257 participants (estimated)
Target follow-up
6 Months
Patient registry
Yes

Groups and cohorts

  • GOS Participants

    GOS is a disease specific registry open to all Gaucher patients irrespective of treatment status or type of treatment

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What researchers measure

Primary outcomes

  1. Number of Participants With Treatment-emergent Adverse Events (AEs) and Serious Adverse Events (SAEs)

    Treatment-emergent adverse events (TEAEs) are defined as adverse events (AEs) that either commenced or worsened following the first dose of VPRIV.

    Time frame: Baseline to one year for up to 20 years

  2. Number of Participants With Infusion-related Reactions (IRRs)

    An IRR is defined as an AE that has been assessed as at least possibly related to treatment with VPRIV and occurs during an infusion or up to 24 hours post-VPRIV infusion.

    Time frame: Baseline to one year for up to 20 years

  3. Increase of Hemoglobin Concentration

    Hemoglobin concentration will be assessed.

    Time frame: Baseline to one year for up to 20 years

  4. Increase of Platelet Count

    Platelet count will be assessed.

    Time frame: Baseline to one year for up to 20 years

  5. Decrease in Liver Volume

    Liver volume will be assessed by abdominal imaging.

    Time frame: Baseline to one year for up to 20 years

  6. Decrease in Spleen Volume

    Spleen volume will be assessed by abdominal imaging.

    Time frame: Baseline to one year for up to 20 years

  7. Increase in Bone Mineral Density (BMD)

    Bone mineral density will be assessed.

    Time frame: Baseline to one year for up to 20 years

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Study locations

1 of 1 sites recruiting
  • Central Contact
    Lexington, Massachusetts 02421, United States
    Recruiting
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References and documents

Publications

  • Ain NU, Vaishnaw M, Mistry PK. Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. J Inherit Metab Dis. 2026 Jan;49(1):e70128. doi: 10.1002/jimd.70128. PubMed 41527340 ↗
  • Revel-Vilk S, Ramaswami U, Pintos-Morell G, Hughes D, Nicholls K, Reisin R, Giugliani R, Goker-Alpan O, Istaiti M, Gill A, Scarpa M, Botha J. Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys. Orphanet J Rare Dis. 2025 Mar 28;20(1):145. doi: 10.1186/s13023-024-03416-2. PubMed 40155993 ↗
  • Elstein D, Belmatoug N, Bembi B, Deegan P, Fernandez-Sasso D, Giraldo P, Goker-Alpan O, Hughes D, Lau H, Lukina E, Revel-Vilk S, Schwartz IVD, Istaiti M, Botha J, Gadir N, Schenk J, Zimran A; GOS Study Group. Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry. J Clin Med. 2024 Jun 19;13(12):3588. doi: 10.3390/jcm13123588. PubMed 38930117 ↗
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Registry details

Key details

Study ID
NCT03291223
Lead sponsor
Shire
Responsible party
Sponsor
First posted
Sep 25, 2017
Start date
Dec 29, 2010
Primary completion
Sep 30, 2028 (estimated)
Completion
Sep 30, 2028 (estimated)
Last update
Sep 15, 2026

Study contacts

Shire Contact
Contact
ClinicalTransparency@shire.com
+1 866 842 5335
Shire Study Physician
study director · Shire

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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